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  3. CCDC88A
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Fetal anomalies

Gene: CCDC88A

Green List (high evidence)
CCDC88A (coiled-coil domain containing 88A)
EnsemblGeneIds (GRCh38): ENSG00000115355
EnsemblGeneIds (GRCh37): ENSG00000115355
OMIM: 609736, Gene2Phenotype
CCDC88A is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

Green on multiple other panels. Not reviewed FA panel previously. CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly. Onset in infancy or at birth, not typically detected prenatally. Brain abnormalities may present prenatally.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome-like, OMIM:617507

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PEHO syndrome-like, OMIM:617507
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes PEHO syndrome-like, OMIM:617507 for gene: CCDC88A

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CCDC88A was added gene: CCDC88A was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal